17-9918089-C-T
Variant summary
Our verdict is Benign. Variant got -8 ACMG points: 0P and 8B. BP4_StrongBS2
The NM_201433.2(GAS7):c.1229G>A(p.Arg410Gln) variant causes a missense change. The variant allele was found at a frequency of 0.0000564 in 1,612,982 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_201433.2 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -8 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.000230 AC: 35AN: 152262Hom.: 0 Cov.: 33
GnomAD3 exomes AF: 0.0000120 AC: 3AN: 250694Hom.: 0 AF XY: 0.00000738 AC XY: 1AN XY: 135508
GnomAD4 exome AF: 0.0000383 AC: 56AN: 1460720Hom.: 0 Cov.: 30 AF XY: 0.0000344 AC XY: 25AN XY: 726738
GnomAD4 genome AF: 0.000230 AC: 35AN: 152262Hom.: 0 Cov.: 33 AF XY: 0.000229 AC XY: 17AN XY: 74392
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.1229G>A (p.R410Q) alteration is located in exon 13 (coding exon 13) of the GAS7 gene. This alteration results from a G to A substitution at nucleotide position 1229, causing the arginine (R) at amino acid position 410 to be replaced by a glutamine (Q). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at